Results 151 to 160 of about 14,698 (215)

General Anesthesia for a Child With Sjögren-Larsson Syndrome. [PDF]

Anesth Prog
Asahi Y, Omichi S, Tsukamoto H, Toyohara Y, Kato C, Sugimoto Y, Hyodo M, Takasaki Y.   +7 more
europepmc   +1 more source

Characterizing superficial epidermolytic ichthyosis in a patient with KRT2 mutation responsive to ustekinumab. [PDF]

JAAD Case Rep
Zaino M, Jones J, Hu R, Choate K, Callen JP, Schadt CR.   +5 more
europepmc   +1 more source

ST14 syndromic epidermal differentiation disorder: A case report of a homozygous recessive variant with photosensitivity. [PDF]

JAAD Case Rep
Elhofy N, Almukhaimar SK, Alyaseen SY, Aldandan AW, Al-Mulhem MA.   +4 more
europepmc   +1 more source

Multilocus Genetic Variants in a Child With Neuro-Ichthyosis: A Case of Pharmacoresistant Epilepsy and Developmental Delay Associated With CC2D2A, ABCA12, DOCK6 Variants, and a 14q31.3-q32.11 Deletion. [PDF]

Clin Case Rep
Dababseh BH, Ghnimat AS, AbuHamdiya LW, Atatre MH, Batran A, Suboh MW.   +5 more
europepmc   +1 more source

Central precocious puberty as the initial manifestation of multisystem involvement caused by <i>de novo</i> heterozygous <i>KMT2B</i> mutation and <i>STS</i> hemizygous deletion: a case report. [PDF]

Front Endocrinol (Lausanne)
Feng Y, Yang L, Xu QB, Cao LF.
europepmc   +1 more source

Harlequin ichthyosis in a newborn: a rare and severe congenital ichthyosis. [PDF]

Pan Afr Med J
Tamgadge A, Gomase K.
europepmc   +1 more source

Clinical and genetic landscape of neuronopathic gaucher disease in Ukraine: hepatosplenomegaly and diagnostic delay. [PDF]

Orphanet J Rare Dis
Samonenko N, Olkhovych N, Okhotnikova O, Gorovenko N.   +3 more
europepmc   +1 more source

Complex Dermatological Manifestations of Poorly Controlled Diabetes: A Case of Acquired Ichthyosis. [PDF]

Case Rep Dermatol Med
Fathizadeh S, Woods AD, Escobar ST, Tsoukas M.   +3 more
europepmc   +1 more source

A case report of X-linked ichthyosis associated with epilepsy due to an <i>Xp22.31</i> deletion fragment. [PDF]

Front Med (Lausanne)
Qi Y, Lin S, Zhou Y, Jiang K.
europepmc   +1 more source

Mucocutaneous manifestations as early indicators of systemic disease: a narrative review. [PDF]

Front Med (Lausanne)
Al Dhamin SA, AlDhamin D, Jaber Z.
europepmc   +1 more source